Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate
Diaz, George A., Krivitzky, Lauren S., Mokhtarani, Masoud, Rhead, William, Bartley, James, Feigenbaum, Annette, Longo, Nicola, Berquist, William, Berry, Susan A., Gallagher, Renata, Lichter‐Konecki, Uta, Bartholomew, Dennis, Harding, Cary O., Cederbaum, Stephen, McCandless, Shawn E., Smith, Wendy, Vockley, Gerald, Bart, Stephen A., Korson, Mark S., Kronn, David, Zori, Roberto, Merritt, J. Lawrence, C.S. Nagamani, Sandesh, Mauney, Joseph, LeMons, Cynthia, Dickinson, Klara, Moors, Tristen L., Coakley, Dion F., Scharschmidt, Bruce F., Lee, Brendan
Published in Hepatology (Baltimore, Md.) (01.06.2013)
Published in Hepatology (Baltimore, Md.) (01.06.2013)
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Clinical approach to genetic cardiomyopathy in children
SCHWARTZ, M. L, COX, G. F, LIN, A. E, KORSON, M. S, PEREZ-ATAYDE, A, LACRO, R. V, LIPSHULTZ, S. E
Published in Circulation (New York, N.Y.) (15.10.1996)
Published in Circulation (New York, N.Y.) (15.10.1996)
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Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder
Lee, Brendan, Diaz, George A, Rhead, William, Lichter-Konecki, Uta, Feigenbaum, Annette, Berry, Susan A, Le Mons, Cindy, Bartley, James A, Longo, Nicola, Nagamani, Sandesh C, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O, Korson, Mark S, McCandless, Shawn E, Smith, Wendy, Cederbaum, Stephen, Wong, Derek, Merritt, 2nd, J Lawrence, Schulze, Andreas, Vockley, Jerry, Vockley, Gerard, Kronn, David, Zori, Roberto, Summar, Marshall, Milikien, Douglas A, Marino, Miguel, Coakley, Dion F, Mokhtarani, Masoud, Scharschmidt, Bruce F
Published in Genetics in medicine (01.07.2015)
Published in Genetics in medicine (01.07.2015)
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Quality of Life Assessment in Adults with Type 1 Gaucher Disease
Bruce J. Masek, Katherine B. Sims, Catherine M. Bove, Mark S. Korson, Priscilla Short, Norman, Dennis K.
Published in Quality of life research (01.05.1999)
Published in Quality of life research (01.05.1999)
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Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges
Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M, Saneto, Russell, Anselm, Irina, Collins, Abigail, Cohen, Bruce H, DeBrosse, Suzanne D, Dimmock, David, Falk, Marni J, Ganesh, Jaya, Greene, Carol, Gropman, Andrea L, Haas, Richard, Kahler, Stephen G, Kamholz, John, Kendall, Fran, Korson, Mark S, Mattman, Andre, Milone, Margherita, Niyazov, Dmitriy, Pearl, Phillip L, Reimschisel, Tyler, Salvarinova-Zivkovic, Ramona, Sims, Katherine, Tarnopolsky, Mark, Tsao, Chang-Yong, van Hove, Johan, Walsh, Laurence, Wolfe, Lynne A
Published in Mitochondrion (01.01.2014)
Published in Mitochondrion (01.01.2014)
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Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials
Nagamani, Sandesh C S, Diaz, George A, Rhead, William, Berry, Susan A, Le Mons, Cynthia, Lichter-Konecki, Uta, Bartley, James, Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O, Korson, Mark S, McCandless, Shawn E, Smith, Wendy, Vockley, Jerry, Kronn, David, Zori, Robert, Cederbaum, Stephen, Merritt, 2nd, J Lawrence, Wong, Derek, Coakley, Dion F, Scharschmidt, Bruce F, Dickinson, Klara, Marino, Miguel, Lee, Brendan H, Mokhtarani, Masoud
Published in Molecular genetics and metabolism (01.09.2015)
Published in Molecular genetics and metabolism (01.09.2015)
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The importance of gut motility in the metabolic control of propionic acidemia
Prasad, Chitra, Nurko, Samuel, Borovoy, Jacob, Korson, Mark S.
Published in The Journal of pediatrics (01.04.2004)
Published in The Journal of pediatrics (01.04.2004)
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Determination of phenylalanine and tyrosine in dried blood specimens by ion-exchange chromatography using the Hitachi L-8800 analyzer
Allard, Pierre, Cowell, Lurley D., Zytkovicz, Thomas H., Korson, Mark S., Ampola, Mary G.
Published in Clinical biochemistry (01.10.2004)
Published in Clinical biochemistry (01.10.2004)
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Tyrosine supplementation in phenylketonuria: Diurnal blood tyrosine levels and presumptive brain influx of tyrosine and other large neutral amino acids
Kalsner, Louisa R., Rohr, Frances J., Strauss, Kevin A., Korson, Mark S., Levy, Harvey L.
Published in The Journal of pediatrics (01.09.2001)
Published in The Journal of pediatrics (01.09.2001)
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A GC/MS/MS screening method for multiple organic acidemias from urine specimens
Hagen, Thilo, Korson, Mark S., Sakamoto, Masayuki, Evans, James E.
Published in Clinica chimica acta (01.05.1999)
Published in Clinica chimica acta (01.05.1999)
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Neuropsychiatric illness in a patient with cobalamin G disease, an inherited disorder of vitamin B12 metabolism
Hill, Kevin P, Lukonis, Christopher J, Korson, Mark S, Weinstein, Cheryl, Thall, Mark, Schwartz, Jane T
Published in Harvard review of psychiatry (01.03.2004)
Published in Harvard review of psychiatry (01.03.2004)
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Journal Article
Treatment-related signs and symptoms among patients with urea cycle disorders (UCDs) during treatment with sodium phenylbutyrate and glycerol phenylbutyrate
Nagamani, Sandesh C., Diaz, George A., Rhead, William J., Berry, Sue A., Le Mons, Cindy, Lichter-Konecki, Uta, Bartley, James A., Feigenbaum, Annette, Schulze, Andreas, Longo, Nicola, Berquist, William E., Gallagher, Renata, Bartholomew, Dennis W., Harding, Cary O., Korson, Mark S., McCandless, Shawn E., Smith, Wendy E., Vockley, Gerard, Kronn, David, Zori, Robert, Coakley, Dion F., Scharschmidt, Bruce F., Mokhtarani, Masoud, Lee, Brendan H.
Published in Clinical biochemistry (01.10.2014)
Published in Clinical biochemistry (01.10.2014)
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Journal Article
BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS
Lee, Brendan, Diaz, George A., Rhead, William, Lichter-Konecki, U., Feigenbaum, Annette, Berry, Susan A., Le Mons, C., Bartley, James A, Longo, Nicola, Nagamani, Sandesh C., Berquist, William, Gallagher, Renata, Bartholomew, Dennis, Harding, Cary O., Korson, Mark S., McCandless, Shawn E., Smith, Wendy, Cederbaum, Stephen, Wong, Derek, Merritt, J. Lawrence, Schulze, A., Vockley, Gerard, Kronn, David, Zori, Roberto, Summar, Marshall, Milikien, D.A., Marino, M., Coakley, D.F., Mokhtarani, M., Scharschmidt, B.F.
Published in Genetics in medicine (11.12.2014)
Published in Genetics in medicine (11.12.2014)
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Four cases with hypoplastic thumbs and encephaloceles
Huang, Taosheng, Korson, Mark S, Krauss, Celeste, Holmes, Lewis B
Published in American journal of medical genetics (01.08.2002)
Published in American journal of medical genetics (01.08.2002)
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Journal Article
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency
Cox, Gerald F., Souri, Masayoshi, Aoyama, Toshifumi, Rockenmacher, Sol, Varvogli, Liza, Rohr, Frances, Hashimoto, Takashi, Korson, Mark S.
Published in The Journal of pediatrics (01.08.1998)
Published in The Journal of pediatrics (01.08.1998)
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